Cole S A, Aston C E, Hamman R F, Ferrell R E
Department of Human Genetics, University of Pittsburgh, PA 15261.
Genet Epidemiol. 1993;10(3):177-88. doi: 10.1002/gepi.1370100304.
We present results from an association study between RFLPs in the lipoprotein lipase (LPL) gene and lipid and insulin levels. The study population consisted of 102 Hispanic men and 97 Hispanic women. The subjects were genotyped for two previously reported RFLPs detected with the restriction enzymes HindIII and PvuII. The frequencies of the RFLPs in the Hispanic population are similar to those seen in other Caucasian populations. Strong linkage disequilibrium was detected between the sites in Hispanics. Genotypes were used separately in analyses of variance with fasting serum triglycerides, total cholesterol, high density lipoprotein (HDL)-cholesterol, low density lipoprotein (LDL)-cholesterol, HDL2/HDL3-cholesterol, and insulin levels, as well as two measures of adiposity: waist-hip ratio and body mass index. Men and women were analyzed separately. Mean fasting insulin levels of the LPL PvuII genotypes were significantly different from each other in Hispanic men. The mean fasting insulin level of men who were homozygous for the presence of the PvuII site (+/+) was 9.20 +/- 0.24 mu units/ml, men who were heterozygous had a mean level of 10.54 +/- 0.20 mu units/ml, and men who were homozygous for the absence of the site (-/-) had a mean of 12.91 +/- 0.30 mu units/ml. This effect was not seen in Hispanic women. These results suggest that the regulation of LPL by insulin may be different in Hispanics with different LPL PvuII genotypes.
我们展示了脂蛋白脂肪酶(LPL)基因中的限制性片段长度多态性(RFLP)与血脂及胰岛素水平之间关联研究的结果。研究人群包括102名西班牙裔男性和97名西班牙裔女性。对受试者进行基因分型,检测两个先前报道的分别用限制性内切酶HindIII和PvuII识别的RFLP。西班牙裔人群中RFLP的频率与其他高加索人群中所见相似。在西班牙裔人群中检测到这些位点之间存在强连锁不平衡。在对空腹血清甘油三酯、总胆固醇、高密度脂蛋白(HDL)胆固醇、低密度脂蛋白(LDL)胆固醇、HDL2/HDL3胆固醇、胰岛素水平以及两种肥胖指标:腰臀比和体重指数进行方差分析时,分别使用了不同的基因型。男性和女性分别进行分析。在西班牙裔男性中,LPL PvuII基因型的平均空腹胰岛素水平彼此显著不同。存在PvuII位点(+/+)的纯合子男性的平均空腹胰岛素水平为9.20±0.24微单位/毫升,杂合子男性的平均水平为10.54±0.20微单位/毫升,不存在该位点(-/-)的纯合子男性的平均水平为12.91±0.30微单位/毫升。在西班牙裔女性中未观察到这种效应。这些结果表明,在具有不同LPL PvuII基因型的西班牙裔人群中,胰岛素对LPL的调节可能有所不同。